This region represents the promoter of the cytochrome P450 family 11 subfamily A member 1 (CYP11A1) gene. This sequence is regulated by hormones such as adrenocorticotropic hormone and human chorionic gonadotropin in the adrenals and gonads. It responds to cyclic AMP and binding of nuclear receptor family members such as Nr5a1/Sf1 and additional transcriptional regulators to pr... See more...

Aliases for LOC108964933 Gene

Aliases for LOC108964933 Gene

  • CYP11A1 Promoter Region 3

External Ids for LOC108964933 Gene

Summaries for LOC108964933 Gene

Entrez Gene Summary for LOC108964933 Gene

  • This region represents the promoter of the cytochrome P450 family 11 subfamily A member 1 (CYP11A1) gene. This sequence is regulated by hormones such as adrenocorticotropic hormone and human chorionic gonadotropin in the adrenals and gonads. It responds to cyclic AMP and binding of nuclear receptor family members such as Nr5a1/Sf1 and additional transcriptional regulators to proximal and distal sequence modules. [provided by RefSeq, Nov 2016]

GeneCards Summary for LOC108964933 Gene

LOC108964933 (CYP11A1 Promoter Region) is a Biological Region gene.

Additional gene information for LOC108964933 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LOC108964933 Gene

Genomics for LOC108964933 Gene

Genomic Locations for LOC108964933 Gene

Genomic Locations for LOC108964933 Gene
chr15:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC108964933 Gene

RefSeq DNA sequence for LOC108964933 Gene

No data available for GeneHancer (GH) Regulatory Elements and Cytogenetic band for LOC108964933 Gene

Proteins for LOC108964933 Gene

Post-translational modifications for LOC108964933 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC108964933 Gene

Domains & Families for LOC108964933 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC108964933 Gene

Function for LOC108964933 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LOC108964933 Gene

Localization for LOC108964933 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for LOC108964933 Gene

Pathways & Interactions for LOC108964933 Gene

PathCards logo

SuperPathways for LOC108964933 Gene

No Data Available
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Gene Ontology (GO) - Biological Process for LOC108964933 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC108964933 Gene

Drugs & Compounds for LOC108964933 Gene

No Compound Related Data Available

Transcripts for LOC108964933 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC108964933 Gene

No ASD Table

No data available for mRNA/cDNA for LOC108964933 Gene

Expression for LOC108964933 Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for LOC108964933 Gene

Orthologs for LOC108964933 Gene

No data available for Orthologs and Evolution for LOC108964933 Gene

Paralogs for LOC108964933 Gene

No data available for Paralogs for LOC108964933 Gene

Variants for LOC108964933 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LOC108964933 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs567971184 Uncertain Significance: Congenital Adrenal Insufficiency 74,367,644( ) T/C FIVE_PRIME_UTR_VARIANT
rs886051481 Uncertain Significance: Congenital Adrenal Insufficiency 74,367,620( ) T/C FIVE_PRIME_UTR_VARIANT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for LOC108964933 Gene

Disorders for LOC108964933 Gene

No disorders were found for LOC108964933 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for LOC108964933 Gene

Publications for LOC108964933 Gene

  1. Low-dose Bisphenol A Activates Cyp11a1 Gene Expression and Corticosterone Secretion in Adrenal Gland via the JNK Signaling Pathway. (PMID: 26209791) Lan HC … Lin JH (Toxicological sciences : an official journal of the Society of Toxicology 2015) 3 54
  2. Transcriptional regulation of genes related to progesterone production. (PMID: 26135521) Mizutani T … Miyamoto K (Endocrine journal 2015) 3 54
  3. C/EBPβ (CCAAT/enhancer-binding protein β) mediates progesterone production through transcriptional regulation in co-operation with SF-1 (steroidogenic factor-1). (PMID: 24635384) Mizutani T … Miyamoto K (The Biochemical journal 2014) 3 54
  4. Polymorphisms of pentanucleotide repeats (tttta)n in the promoter of CYP11A1 and their relationships to polycystic ovary syndrome (PCOS) risk: a meta-analysis. (PMID: 24610422) Yu M … Wang L (Molecular biology reports 2014) 3 54
  5. Gonadal transactivation of STARD1, CYP11A1 and HSD3B. (PMID: 22201776) King SR … LaVoie HA (Frontiers in bioscience (Landmark edition) 2012) 3 54

No data available for Mastermind for LOC108964933 Gene

Products for LOC108964933 Gene

Sources for LOC108964933 Gene